Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases

Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases

Abstract Genetic neuromuscular diseases are clinically and genetically heterogeneous genetic disorders that primarily affect the peripheral nerves, muscles, and neuromuscular junctions. This study aimed to identify pathogenic variants, calculate carrier frequency, and predict the genetic prevalence...

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Bibliographic Details
Main Authors: Won-Jun Choi, Soo-Hyun Kim, Sung Rok Lee, Seung-Hun Oh, Seung Woo Kim, Ha Young Shin, Hyung Jun Park
Format: Article
Language:English
Published: Nature Portfolio 2024-02-01
Series:Scientific Reports
Subjects:
Genetic prevalence
Carrier frequency
Genome
Human
Neuromuscular disease
Pathogenic variant
Online Access:https://doi.org/10.1038/s41598-024-54413-1

Internet

https://doi.org/10.1038/s41598-024-54413-1

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